James Lupski’s story has all the elements of a good sci-fi tale: a research scientist determined to uncover the cause of his own genetic disease, a friend and colleague who’s also an intrepid gene hunter, and a futuristic technology that not only pinpoints the molecular cause of the research scientist’s disease, but also opens the door to a new era of personalized medicine.
But in this case, it’s...

Imagine visiting your doctor and being advised to get a particular genetic test. Instead, you open your laptop and pull up a list of all 3 billion chemical “letters” that make up your full genome (the entire set of genes that comprise your DNA).
Or, perhaps you have your genetic blueprint, or “genome sequence,” encoded in a chip on your health insurance card. Swipe it through a reader when you...